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New developments in erythropoietic porphyrias.
[erythropoietic protoporphyria]
In
recent
years
,
important
advances
have
been
made
in
our
understanding
of
the
genetics
of
porphyrias
,
particularly
with
respect
to
erythropoietic
protoporphyria
(
EPP
)
and
congenital
erythropoietic
porphyria
(
CEP
)
,
2
forms
of
erythropoietic
porphyria
no
longer
considered
to
be
monogenic
.
The
identification
of
mutations
in
genes
not
previously
associated
with
these
disorders
as
causative
factors
or
modulators
of
severity
has
helped
to
explain
the
presence
of
genotypic
and
phenotypic
differences
between
patients
carrying
the
same
mutations
.
These
advances
have
also
led
to
the
identification
of
causative
genetic
defects
in
patients
who
,
based
on
molecular
studies
,
had
no
mutations
in
the
uroporphyrinogen
III
synthase
gene
UROS
(
in
CEP
)
or
in
the
ferrochelatase
gene
FECH
(
in
EPP
)
.
Better
understanding
and
characterization
of
the
genetics
of
porphyrias
will
allow
us
to
determine
genotypic
and
phenotypic
correlations
and
improve
the
molecular
classification
of
these
diseases
,
which
will
have
both
practical
and
prognostic
implications
.
